Self-reported adherence supports patient preference for the single tablet regimen (STR) in the current cART era

por Sterrantino, Gaetana, Santoro, Lucia, Bartolozzi, Dario, Trotta, Michele, Zaccarelli, Mauro
Publicado 2012

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

por Santoro, Lucia, Pjetraj, Dorina, Velmishi, Virtut, Campana, Carmen, Catassi, Carlo, Dionisi-Vici, Carlo, Maiorana, Arianna
Publicado 2022

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

por Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Publicado 2016

Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

por Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
Publicado 2020

Human milk glycosaminoglycans: the state of the art and future perspectives

por Coppa, Giovanni Valentino, Gabrielli, Orazio, Bertino, Enrico, Zampini, Lucia, Galeazzi, Tiziana, Padella, Lucia, Santoro, Lucia, Marchesiello, Rita Lucia, Galeotti, Fabio, Maccari, Francesca, Volpi, Nicola
Publicado 2013

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

por Zanetti, Alessandra, D’Avanzo, Francesca, Rigon, Laura, Rampazzo, Angelica, Concolino, Daniela, Barone, Rita, Volpi, Nicola, Santoro, Lucia, Lualdi, Susanna, Bertola, Francesca, Scarpa, Maurizio, Tomanin, Rosella
Publicado 2019

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)

por Dardis, Andrea, Pavan, Eleonora, Fabris, Martina, Da Riol, Rosalia Maria, Sechi, Annalisa, Fiumara, Agata, Santoro, Lucia, Ormazabal, Maximiliano, Milanic, Romina, Zampieri, Stefania, Biasizzo, Jessica, Scarpa, Maurizio
Publicado 2021

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study

por Sestito, Simona, Rinninella, Giada, Rampazzo, Angelica, D’Avanzo, Francesca, Zampini, Lucia, Santoro, Lucia, Gabrielli, Orazio, Fiumara, Agata, Barone, Rita, Volpi, Nicola, Scarpa, Maurizio, Tomanin, Rosella, Concolino, Daniela
Publicado 2022

Multiple sulfatase deficiency with neonatal manifestation

por Garavelli, Livia, Santoro, Lucia, Iori, Alexandra, Gargano, Giancarlo, Braibanti, Silvia, Pedori, Simona, Melli, Nives, Frattini, Daniele, Zampini, Lucia, Galeazzi, Tiziana, Padella, Lucia, Pepe, Stefano, Wischmeijer, Anita, Rosato, Simonetta, Ivanovski, Ivan, Iughetti, Lorenzo, Gelmini, Chiara, Bernasconi, Sergio, Superti-Furga, Andrea, Ballabio, Andrea, Gabrielli, Orazio
Publicado 2014

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

por Dardis, Andrea, Zampieri, Stefania, Gellera, Cinzia, Carrozzo, Rosalba, Cattarossi, Silvia, Peruzzo, Paolo, Dariol, Rosalia, Sechi, Annalisa, Deodato, Federica, Caccia, Claudio, Verrigni, Daniela, Gasperini, Serena, Fiumara, Agata, Fecarotta, Simona, Carecchio, Miryam, Filosto, Massimiliano, Santoro, Lucia, Borroni, Barbara, Bordugo, Andrea, Brancati, Francesco, Russo, Cinzia V., Di Rocco, Maja, Toscano, Antonio, Scarpa, Maurizio, Bembi, Bruno
Publicado 2020

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

por Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
Publicado 2015